Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0004158
Disease: Athetosis
Athetosis 		0 3 0 0 1 0.14
CUI: C0008489
Disease: Chorea
Chorea 		0 20 0 0 1 4.2E-02
CUI: C0026961
Disease: Mydriasis
Mydriasis 		0 2 0 0 1 0.17
CUI: C0030232
Disease: Pallor
Pallor 		0 4 0 0 1 0.12
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		0 3 0 0 1 0.14
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		0 8 0 0 1 8.3E-02
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		0 4 0 0 1 0.12
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		0 1 0 0 1 0.20
CUI: C1839783
Disease: Large forehead
Large forehead 		0 1 0 0 1 0.20
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0 10 0 0 1 7.1E-02
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		0 5 0 0 1 0.11
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		0 1 0 0 1 0.20
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		0 13 0 0 1 5.9E-02
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		0 3 0 0 1 0.14
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga 		0 3 0 0 1 0.14
CUI: C4021603
Disease: Widely spaced primary teeth
Widely spaced primary teeth 		0 1 0 0 1 0.20
CUI: C4024661
Disease: Abnormality of the vertebral spinous processes
Abnormality of the vertebral spinous processes 		0 1 0 0 1 0.20
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0 27 0 0 1 3.2E-02
CUI: C0009761
Disease: Conjunctival Neoplasms
Conjunctival Neoplasms 		1 0 1 5.6E-02 0 0
CUI: C0035290
Disease: Reticulohistiocytic granuloma
Reticulohistiocytic granuloma 		1 0 1 5.6E-02 0 0
CUI: C0153470
Disease: Malignant neoplasm of spleen
Malignant neoplasm of spleen 		1 0 1 5.6E-02 0 0
CUI: C0162504
Disease: Neutrophilic Eccrine Hidradenitis
Neutrophilic Eccrine Hidradenitis 		1 0 1 5.6E-02 0 0
CUI: C0265701
Disease: Congenital eventration of diaphragm
Congenital eventration of diaphragm 		1 0 1 5.6E-02 0 0
CUI: C0267716
Disease: Incisional hernia
Incisional hernia 		1 0 1 5.6E-02 0 0
CUI: C0268356
Disease: Osteogenesis imperfecta with blue sclerae AND normal teeth
Osteogenesis imperfecta with blue sclerae AND normal teeth 		1 0 1 5.6E-02 0 0